Dokter Blog: from the desk of Rahajeng Tunjungputri

Medicine et cetera by @ajengmd

Writing for “LÓreal For Women in Science”: The genetic counsellor as a bridge between technology and patients

This writing has recently been published on LÓreal For Women in Science website:

The genetic counsellor: a bridge between technology and patients

A genetic counsellor is a health care professional who is trained to provide genetic counselling services. Individuals and families who seek out a genetic counsellor may then receive information regarding the occurrence, risk of recurrence, and possible management of a genetic condition. Genetic counselling is a process that involves collecting and interpreting genetic, medical and psychosocial history information, which most of the time needs to come from relatives and extended family. This material, along with an understanding… (continue reading on For Women in Science website)

 

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2nd International Seminar and Workshop on Fragile X, Autism, and Related Disorders

Fragile-X syndrome (FXS) is the most common form of inherited intellectual disabilities (ID). The clinical signs are intellectual disabilities, hyperactive, autism, psychoneurologic disorders, and macroorchidism (testes enlargement) in male. The common affected is in males; however, carrier female could have a mild intellectual disability such as learning difficulties, without other symptoms. Some clinically normal males (Normal Transmitting Males) are known to carry and transmit the fragile X mutation to their daughter. In advance age, carriers of FXS could develop Fragile-X-Associated Tremor Ataxia (FXTAS), a neurodegenerative disorder.

Within the framework of long collaboration with the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, UC Davis, USA; Faculty of Medicine Diponegoro University (FMDU) Semarang Indonesia will organize a 2nd International workshop on Fragile X Syndrome, Autism and Related Disorders. This workshop comprises also a talk show session, which will present some cases of autism and ID patients.
(Excerpt taken from the seminar’s leaflet)
The event will take place in Semarang, 7 August 2010. Please refer to the leaflet below (downloadable) and register for your ensured participation in the event.
Regards,
Rahajeng

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Announcement for Lectures of Prof. Cremers, 2010

Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang Indonesia in collaboration with Department of Human Genetics Radboud University Nijmegen Medical Centre, The Netherlands is announcing a lecture and presentation event by Prof. dr. Frans P.M. Cremers, PhD.
Below is short introduction of Prof. Frans Cremers:
In 1984, he finished his master Biology at the Radboud University Nijmegen (main subject: molecular biology). He performed his PhD study at the Department of Human Genetics, in the Radboud University Nijmegen Medical Centre and received a cum laude PhD in 1991 on the thesis entitled: ‘Positional cloning of a candidate gene for choroideremia’. In 2004 he was appointed full professor Molecular Biology of Inherited Eye Diseases, and in 2009, he was also appointed Adjunct Honorary Professor in Comsats Institute of Information Technology, Islamabad, Pakistan. In 2005 he was appointed Programme Director of the topmaster ‘Molecular Mechanisms of Disease’. From 1992 – 2010, he supervised 12 PhD students and numerous BSc and MSc students. He was awarded the ‘Internationalizations Award 2010 of the Radboud University Nijmegen’ for his continued efforts to facilitate MSc and PhD students to study in the Netherlands,and to foster international collaborations.
Lectures and presentation will be held 21-23 July 2010, from 08.30 a.m. in 3rd floor of Faculty building, Faculty of Medicine Diponegoro University Semarang.
(Please click image for full poster)

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Genetic Counselor and Ideas from Psychotherapy

I rarely post about genetic counseling, but to answer the basic questions, this is a clear explanation of what a genetic counselor is (ABGC, 2010):

A genetic counselor is a health care professional who is academically and clinically prepared to provide genetic counseling services to individuals and families seeking information about the occurrence, or risk of occurrence, of a genetic condition or birth defect.

The genetic counseling process involves the collection and interpretation of family, genetic, medical and psychosocial history information. Analysis of this information, together with an understanding of genetic principles and the knowledge of current technologies, provides clients and their families with information about risk, prognosis, medical management, and diagnostic and prevention options. Information is discussed in a client-centered manner while respecting the broad spectrum of beliefs and value systems that exist in our society. The genetic counseling process ultimately facilitates informed decision-making and promotes behaviors that reduce the risk of disease.


A very interesting book on genetic counseling provides a very useful insight. Below is my summary of the fourth chapter of the book, “Genetic Counselor and Ideas from Psychotherapy” (Evans, 2006):

Chapter 4: The role and skills of the counsellor and ideas from psychotherapy

(From Genetic Counselling by Christine Evans, page  61-82)

The role of the counsellor

There are different opinions on the role of counsellor. Some of these opinions are genetic counsellor as information provider or facilitator of decision-making. Another opinion stated that genetic counsellor play a role in assisting decision-making and helping to prepare clients for the result and to facilitate the client in accepting the meaning of a test result.

In practice, there change between the role of information provider and facilitator is a dynamic process. When a patient gives emotional response after information is given, then the role of the counsellor is more as a facilitator than information provider. The elements of genetic counselling are review of the family history, present and past relationships and attitudes, self-reflection, decision-making and coping. There is also a need to process emotions and contain anxiety. Skills repertoire of genetic counsellor may be expanded with additional ideas taken from general theory of psychotherapy.

Principles from psychotherapy

Winnicott (1971) and Bion (1959) emphasise the attitude and skill needed in professional relationship. There is also a need to understand the link between emotion and thinking in genetic counselling.

The structure of the interview

The interview takes place within a physical space, a time space and a psychological

space.

The physical space

The physical space of genetic counselling may be anywhere as long as the purpose is clear and there’s an agreed agenda for both patient and genetic counsellors. The space is more of an interactional space of discussion between the counsellor and patients or also with the family. The genetic counsellor is responsible for the time, focus, and approach.

The time space

A consultation may be similar to a music piece with a beginning that then builds up in the middle and ends with a conclusion. Within a time space patients can bring what is relevant about their condition to the genetic counselling process. Ending the meeting session may be difficult for the genetic counsellors or the patient, and the counsellor has to be able to let go and allow the patient to find their own way or manage their situation with the support of friends or family or alone.

The psychological space

The professional relationship between patients and genetic counsellors is also a psychological space where there is a potential for sharing feelings, developing thinking and decision-making. During the consultation, the counsellor needs to be aware and consider of how the patient is registering the experience.

The elements of a therapeutic professional relationship

The ‘facilitating environment’ and ‘potential space’

Winnicott (1971) and Bion (1959) developed understanding of the conditions needed for building a therapeutic encounter. Winnicott’s stated that genetic counsellors must have particular qualities – an attitude of being emotionally available, supportive, aware and understanding of the patients’ vulnerability. That relationship could then facilitate emotional growth and development in professional consultation. Bion (1959) stated that in the professional relationship there needs to be an ability of the counsellor to tolerate negative emotions, to be able to internally process them and transform them into positive feelings of empathy, concern and compassion. The counsellor is not disturbed by the patient’s high anxiety, but understands the fear, is able to tolerate it and gently and compassionately conveys that sentiment. In a more contractual language the counsellor and patient have to set up a working alliance.

The working alliance

This term refers to the necessity for the counsellor and patient to work together to complete the agreed tasks.

Bordin (1982) considers that there are three components to the working alliance: a consensus between the counsellor and patient on the goals of the encounter; an agreement on the topics and number of meetings to address how the goal is achieved; and, most importantly, the development of a strong affective bond between the professional and patient.

The co-construction of purpose of an interview with the definition of roles

A natural corollary to the working alliance is the idea of the co-construction of the purpose of the interview where the counsellor and patient jointly agree on the purpose of the interview. The counsellor must allow considerable space for the patient to tell their story, but also to keep the focus of the discussion. Sometimes, it may be difficult to interrupt a patient who is telling a personally significant and painful story but with skill and experience the counsellor will be able to balance listening to the story and focusing on the genetic task.

Empathy

Empathy is a ‘feeling state’ of being able to understand someone else’s subjective experience and is the essential skill in human interaction. It is the ingredient the counsellor needs to establish the secure base of relationship with patients. To achieve this special form of communication, the counsellor has to suspend personal ideas and views to be receptive, linked and attuned to the patient in order to understand the other person’s mindset.

Facilitating thinking

Genetic counsellors must aid decision-making and facilitate patients to process the effects of a result. The patient then must be able to self-reflect, which means not only experiencing, but also thinking about the experience. The ability to self-reflect results in thinking aloud, reflecting, integrating and also assessing one’s present position and comparing it to one’s former self. This self-reflection gives an overview and a deeper understanding.

Communicative competence and listening skills of integrating meaning

The counsellor should identify key words used by the patient and follows the train of thought, joins with the thinking process. The counsellor must also read the non-verbal behaviour and consider the level of intelligence. For example, the counsellor revealed a more complete understanding by pausing and summarising the story of the patient.

The use of metaphor

Metaphor language can facilitate an understanding where logical thought, clarification or explanation has failed. The use of metaphor allow the patient and counsellor away from the direct problem to look at it in another way, which is not personal but capture the similar problem of the patient.

Summary points

  • The genetic counselling process involve creating a physical and psychological space which facilitates the patient.
  • Anxiety of the patient may be contained when the genetic counsellor is empathetic and understand the patient’s experience.
  • Metaphors, listening and communication skills of the counsellor may facilitate the patient better.
  • Further on, the genetic counsellor must develop the patient’s ability to self-reflect, make decisions, and deal with the emotions and frustrations.

Further reading:

American Board of Genetic Counseling (ABGC), 2010. Genetic Counseling As A Career. [Online] American Board of Genetic Counseling. Available at http://www.abgc.net/english/View.asp?x=1484 [Accessed 26 June 2010].

Evans C., Biesecker B., 2006. Genetic Counselling, A Psychological Conversation. Cambridge: Cambridge University Press.

***

26 June 2010. Rahajeng. https://dokterblog.wordpress.com

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Semester Exam of Genetic Counseling

I had the semester exam this week in my Master Programme of Genetic Counseling FMDU. I really had to focus on these exams, because as you can see, within 6 days I had 19 different exam subjects, and not much time, energy nor interest in anything else other than preparing myself for these exams.

And the menu for those 6 long days were:

  1. Psychiatry – Grief and bad news, Counseling in children with congenital or genetic abnormalities
  2. Psychology – Helping theory, Development of helping relationship, Genetic Counseling
  3. Obgyn – Psychosocial aspect of fetomaternal cases, Prenatal diagnosis
  4. Endocrinology – Genetics of Diabetes Melitus
  5. Neurology – Myotonic dystrophy, Parkinson Disease, Spinal Muscular Atrophy, Ataxia
  6. Mitochondrial medicine
  7. Immunogenetics – Blood group and HLA
  8. Molecular biology – Gonadal development, Molecular basic, Sexual development disorder
  9. Medical ethics – Bioethics, Professional ethics
  10. Pediatric endocrinology – Basic physical measurement, Cytogenetics, Genetic screening, Genetic disorders
  11. Endocrinology – Genetics of thyroid diseases (congenital hypothyroidism, autoimmune disease, malignancy)
  12. Pediatric urology – Congenital adrenal hypertrophy, Androgen insensitivity syndrome
  13. Pediatric neurology – Epilepsy, Myasthenia gravis, Muscular dystrophy
  14. Embryology – Genetics of embryology, teratology
  15. Immunogenetics – Immunodeficiency, Genetics of immune system
  16. Cancer genetics
  17. Biomolecular aspect of thalassemia
  18. Inborn error of metabolism

*Reenactment of my exam preparation by a model (image is not mine)

And the exam week was particularly challenging because I had what looked almost identical to this (WARNING: This is NOT my picture), the cause I presumed was psychological stress which leads to immune dysregulation (due to exam and several other things… such as my passport issues -Not to be discussed here):

*Reenactment of my canker sores (image is not mine)

Note that it was a large and deep ulcer, heavily inflammed and located on the side of the tongue. When I talk the tongue (and ulcer) is hitting my lips and my teeth, when I sleep the tongue dried and sticked to my palate, and OUCH!!! Basically, the ulcer made eating, drinking, speaking, studying, answering my exam, sleeping, and living, in general, very difficult and extremely painful, each and every minute.

I guess we’ll see the result of the exam in the next few weeks, but generally I’m content and satisfied realizing how broad my studies were in the past 6 months. Considering that my main interest is infectious disease, the opportunity of learning genetics and psychology has been a privilege. I explored the subjects I never really thought about learning before (psychology, counseling, embryology) and I even enjoy them!

And what I truly love from the master programme is: you have this whole new world of knowledge and science opening up, and you are free to explore it for yourself!

*

– Rahajeng

https://dokterblog.wordpress.com

PS: And YES, as the exam finishes, my stomatitis is healing.

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Phenylketonuria and Lecture on Inborn Error of Metabolism

As I am writing this I am highly distracted (and disturbed) by the news on TV about a corruption suspect trying to get away from the country for a “medical check-up”.

Let’s just focus on medicine and patient care for now.

Today we had a visiting lecturer from Jakarta, Dr. Damayanti Rusli Sjarif, PhD, SpA(K) about inborn error of metabolism in our Genetic Counseling master programme. The lecture itself was insightful and as most lectures from our visiting lecturers (because they only visit once every semester) is highly dense with information.

What is most interesting is the fact that there are quite a lot of cases of inborn error of metabolism in Indonesia, and since diagnostic examinations for these diseases are most of the time not available in Indonesia, many patients go undiagnosed and therefore untreated. We can never say that it’s not that particular diseases, when we don’t know whether it’s that particular disease or not. Which brings me to quote House of God, a book by Samuel Shem, where the main character said, “If you don’t take a temperature, you can’t find a fever”.

As a part of the lecture we had to prepare and present a case about phenylketonuria.

And here is my presentation (with some corrections after the lecture). As usual, it’s the picture below is linked to the presentation.

As usual, the presentation include some images from other references, no copyright infringement intended. Until next time.

Regards,

Ajeng

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Twittering medicine and science

My relationship with twitter has not been the most mutual, but when I got to the ground zero of boredom I came back to do some twittering around (by now if you haven’t realized what twitter is, you should just let Uncle Google explain). Anyway, due to my enormous capacity and stamina to read and surf the net, I found so many new science writers and medical writers on twitter. OK reading journal articles are exhausting after a while, but pop science is always somewhat lighter and more fun to read (and good to share with students in the class). So I started going through the tweets, and found interesting articles whether in journals (my fave: Nature and NEJM) or on science blogs (I always love to see how these science writers look like: a nerdy nerd/mad scientist or a hippie in the mad world of science).

I’m sorry, but I belong in this universe where scientific advances are entertainment, writers are celebrities, scientists are even more famous celebrities, and science writers are rock-stars (and this last category includes scientists who write as well). Seriously.

Just the other day, I read this article on Nature, http://bit.ly/aa72f4 and decided to follow the respected writer, Erika Check Hayden on twitter. I loved the Mandelbrot set analogy she used. I followed her, tweet her, and nearly fainted of excitement when she responded back to my tweet. I. Am. Such. A. Nerd. (Please refer back to my previous statement: science writers are rockstars!). And afterwards I followed several other science writers/bloggers and always being amused of how you can have mutual contact via twitter when it comes to pop science and writing (also, thanks to Dr.Isis the Domestic and Laboratory Godess).

I think sometimes I just get tired of the intensity and seriousness of medical blogging and reading, and these pop culture in science and medicine give me new light on staying informed in a fun and relaxing way.

So thank you all twittering science writers!

* Rahajeng

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Presentation slides: Genetic Basis of Parkinson Disease and Bioethics of Genetic Research

***
Dear All,
Since we’ve been working on so many presentations in my master class of genetic counseling I thought I’d share some of our presentations for future reference.
Today we had a discussion and presentation of neurological diseases, one of them is Parkinson Disease.
I uploaded the presentations on SlideShare and for some reason the embed code doesn’t work here, so I will just direct you with a link to SlideShare website for viewing the presentation.

View more presentations from rntunjung
I hope you find this is useful 🙂
Regards,
Rahajeng

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Disclaimer

Medicine is a growing field, and information presented here is reflective of the time of posting. Please refer to your physician for direct medical consultation. My views do not reflect those of my employers. --
Regards, Rahajeng

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